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rs750026492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750026492(C;T)
Make rs750026492(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position101429755
GeneALDOB
is asnp
is mentioned by
dbSNPrs750026492
dbSNP (classic)rs750026492
ClinGenrs750026492
ebirs750026492
HLIrs750026492
Exacrs750026492
Gnomadrs750026492
Varsomers750026492
LitVarrs750026492
Maprs750026492
PheGenIrs750026492
Biobankrs750026492
1000 genomesrs750026492
hgdprs750026492
ensemblrs750026492
geneviewrs750026492
scholarrs750026492
googlers750026492
pharmgkbrs750026492
gwascentralrs750026492
openSNPrs750026492
23andMers750026492
SNPshotrs750026492
SNPdbers750026492
MSV3drs750026492
GWAS Ctlgrs750026492
Max Magnitude0
ClinVar
Risk rs750026492(T;T)
Alt rs750026492(T;T)
Reference Rs750026492(C;C)
Significance Probable-Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 0
HGVS NC_000009.11:g.104192037C>T
CLNSRC
CLNACC RCV000169107.1,